SKI, SKI proto-oncogene, 6497

N. diseases: 255; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.740 Biomarker disease BEFREE Morpholino-induced silencing of SKI paralogs in zebrafish recapitulated abnormalities seen in humans with SGS. 23023332 2012
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.740 GeneticVariation disease BEFREE We describe two additional patients with exon 1 SKI mutations and review the clinical features and literature of Shprintzen-Goldberg syndrome. 24357594 2014
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.740 Biomarker disease BEFREE The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-β signaling, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS. 23103230 2012
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.740 Biomarker disease BEFREE As the majority of the known mutations are located in the R-SMAD binding domain of SKI, our study further emphasizes the importance of TGFβ signaling in the pathogenesis of SGS. 24736733 2015
CUI: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome 		0.320 Biomarker disease BEFREE Ski proto-oncogene -/- mice have phenotypes that resemble some of the features observed in patients with 1p36 deletion syndrome. 12376748 2002
CUI: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome 		0.320 Biomarker disease BEFREE Thus, SKI may contribute to some of the phenotypes common in 1p36 deletion syndrome, and particularly to facial clefting. 11731796 2002
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.310 GeneticVariation disease BEFREE Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 23023332 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 GeneticVariation group BEFREE A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability. 30883014 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group BEFREE We found that DNA methylation at birth differentiated ADHD trajectories across multiple genomic locations, including probes annotated to SKI (involved in neural tube development), ZNF544 (previously implicated in ADHD), ST3GAL3 (linked to intellectual disability) and PEX2 (related to perixosomal processes). 27217153 2017
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.110 Biomarker disease BEFREE Additionally, the immunohistochemical staining-index (SI) score for SKI was significantly higher in AIP than NP, although there was no significant difference between AIP and PDA. 29534839 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype BEFREE Other genes deleted in a subset of the patients likely play a contributory role in the phenotypes, including GABRD and seizures, PRKCZ and neurologic features, and SKI and dysmorphic and neurologic features. 20635359 2010
CUI: C0025202
Disease: melanoma
melanoma 		0.080 Biomarker disease BEFREE Here, I discuss the basis for repression of intracellular TGF-beta signaling by SKI, some additional activities of this protein, and propose that by disrupting multiple tumor suppressor pathways, SKI functions as a melanoma oncogene. 12793438 2003
CUI: C0025202
Disease: melanoma
melanoma 		0.080 Biomarker disease BEFREE SKI knockdown inhibits human melanoma tumor growth in vivo. 19845874 2009
CUI: C0025202
Disease: melanoma
melanoma 		0.080 Biomarker disease BEFREE Taken together, these results suggest that by targeting members of the tumor growth factor beta and beta-catenin pathways, SKI regulates crucial events required for melanoma growth, survival, and invasion. 14583455 2003
CUI: C0025202
Disease: melanoma
melanoma 		0.080 AlteredExpression disease BEFREE The aim of this study was to establish whether the expression of proto-oncogene c-ski in melanoma might be related to alterations of chromosome 1q involving the native location of the gene. 8471834 1993
CUI: C0025202
Disease: melanoma
melanoma 		0.080 AlteredExpression disease BEFREE We show that SKI-1 is constitutively expressed in human pigment cells with higher SKI activity in seven out of eight melanoma cell lines compared with normal melanocytes. 23884247 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.080 Biomarker disease BEFREE Despite high expression in melanoma cells, the role of SKI in melanoma remains elusive: SKI does not efficiently interfere with the pro-oncogenic activities of TGF-β, unless stabilized by proteasome blockade. 21211030 2011
CUI: C0025202
Disease: melanoma
melanoma 		0.080 Biomarker disease BEFREE Here, we investigated whether miR-155 could mediate melanoma growth inhibition via SKI gene silencing. 21466664 2011
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.050 AlteredExpression disease BEFREE In a second set of 183 AML patients analyzed with real-time PCR, the highest expression level of SKI in AML with -7/del7q could be confirmed. 16424870 2006
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.050 AlteredExpression disease BEFREE SKI is a transcriptional co-regulator and overexpressed in various human tumors, for example in acute myeloid leukemia (AML). 29471413 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.050 AlteredExpression disease BEFREE MYB induces the expression of the oncogenic corepressor SKI in acute myeloid leukemia. 29854289 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.050 AlteredExpression disease BEFREE In conclusion, up-regulation of Ski in AML with -7/del7q is caused by loss of miR-29a. miR-29a may therefore function as an important tumor suppressor in AML by restraining expression of the SKI oncogene. 21685371 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 AlteredExpression group BEFREE SKI is known to curtail the growth inhibitory activity of tumor growth factor beta through the formation of repressive transcriptional complexes with Smad2 and Smad3 at the p21(Waf-1) promoter. 14583455 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 AlteredExpression group BEFREE In conclusion, up-regulation of Ski in AML with -7/del7q is caused by loss of miR-29a. miR-29a may therefore function as an important tumor suppressor in AML by restraining expression of the SKI oncogene. 21685371 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE SGS gene-mapping in a pedigree identified a 0.5 Mb genome-wide significant region at <i>12q15</i> This region segregated through 32 meioses to 8 breast cancer cases with extreme PC3 tumors (<i>P</i> = 2.6 × 10<sup>-8</sup>).<b>Conclusions:</b> PC analysis of PAM50 gene expression revealed multiple independent, quantitative measures of tumor diversity. 29650789 2018